C57BL/6NCya-Hnrnph2em1flox/Cya
Common Name:
Hnrnph2-flox
Product ID:
S-CKO-11998
Background:
C57BL/6NCya
Product Type
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Genotype
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Basic Information
Strain Name
Hnrnph2-flox
Strain ID
CKOCMP-56258-Hnrnph2-B6N-VA
Gene Name
Product ID
S-CKO-11998
Gene Alias
DXHXS1271E; Ftp-3; Ftp3; H'; HNRNP; Hnrph2
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Hnrnph2em1flox/Cya mice (Catalog S-CKO-11998) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000059297
NCBI RefSeq
NM_019868
Target Region
Exon 4
Size of Effective Region
~3.9 kb
Detailed Document
Overview of Gene Research
Hnrnph2, a member of the HNRNPF/H family of heterogeneous nuclear RNA proteins, is a critical regulator of RNA maturation, with functions including regulating splicing, 5' capping, 3' polyadenylation of RNAs, and RNA export [3]. It typically binds RNA sequences enriched with guanine residues.
Mutations in Hnrnph2 cause an X-linked neurodevelopmental disorder. Over 90% of patients have a missense mutation within or adjacent to the nuclear localization signal of hnRNPH2, which reduces its interaction with the nuclear transport receptor Kapβ2, leading to cytoplasmic accumulation [1,2]. Knockin mouse models with human-equivalent mutations recapitulate clinical features of the human disorder, such as reduced survival in male mice, impaired motor and cognitive functions, and increased susceptibility to audiogenic seizures [1]. In contrast, Hnrnph2-KO mice show no detectable phenotypes, likely due to upregulated expression of Hnrnph1, a paralog of Hnrnph2, which may counteract the loss of hnRNPH2 [1].
In summary, Hnrnph2 is crucial for RNA-related functions. Mouse models, especially the knockin and KO models, have been instrumental in understanding Hnrnph2-related neurodevelopmental disorders, suggesting that the disorder may be due to a toxic gain of function or a complex loss of Hnrnph2 function with impaired compensation by Hnrnph1 [1].
References:
1. Korff, Ane, Yang, Xiaojing, O'Donovan, Kevin, Taylor, J Paul, Kim, Hong Joo. 2023. A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1. In The Journal of clinical investigation, 133, . doi:10.1172/JCI160309. https://pubmed.ncbi.nlm.nih.gov/37463454/
2. Gonzalez, Abner, Kim, Hong Joo, Freibaum, Brian D, Taylor, J Paul, Chook, Yuh Min. 2023. A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders. In Structure (London, England : 1993), 31, 924-934.e4. doi:10.1016/j.str.2023.05.010. https://pubmed.ncbi.nlm.nih.gov/37279758/
3. Brownmiller, Tayvia, Caplen, Natasha J. 2023. The HNRNPF/H RNA binding proteins and disease. In Wiley interdisciplinary reviews. RNA, 14, e1788. doi:10.1002/wrna.1788. https://pubmed.ncbi.nlm.nih.gov/37042074/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen